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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Case insensitive SNOMED CT core
201252019 Hereditary disorder trait (autosomal) en Synonym Active Case insensitive SNOMED CT core
201253012 Autosomal recessive hereditary disorder en Synonym Active Case insensitive SNOMED CT core
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1928 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive hereditary disorder Is a Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Microcephalic primordial dwarfism due to ZNF335 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
MGAT2-CDG - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mesoaxial synostotic syndactyly with phalangeal reduction syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Laron syndrome with immunodeficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
KRT14 related epidermolysis bullosa simplex Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Keutel syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Junctional epidermolysis bullosa non-Herlitz type Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile onset spinocerebellar ataxia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile choroidocerebral calcification syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypotonia with lactic acidaemia and hyperammonaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary combined deficiency of vitamin K-dependent clotting factors Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease due to hepatic glycogen synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease due to muscle and heart glycogen synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
MOGS CDG - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1e Is a True Autosomal recessive hereditary disorder Inferred relationship Some
DPAGT1-CDG - dolichyl-phosphate n-acetylglucosamine phosphotransferase congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniomicromelic syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniometadiaphyseal dysplasia wormian bone type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniolenticulosutural dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bleeding disorder due to calcium and DAG-regulated guanine exchange factor-1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spastic paraplegia, optic atrophy, neuropathy syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive omodysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
P2Y12 defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mucolipidosis type IV Is a True Autosomal recessive hereditary disorder Inferred relationship Some
HMG-CoA synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital myopathy Paradas type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia Beauce type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive faciodigitogenital syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive ataxia due to ubiquinone deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Resistance to thyrotropin-releasing hormone syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive muscular dystrophy not predominantly limb girdle Is a True Autosomal recessive hereditary disorder Inferred relationship Some
B4GALT1-CDG - Beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intellectual disability Buenos Aires type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
CAMOS syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neurofaciodigitorenal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Coenzyme Q10 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pyridoxal 5-phosphate dependent epilepsy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Short rib polydactyly syndrome Saldino Noonan type Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 32 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 26 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 64 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 63 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 61 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Weaver Williams syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pfeiffer Palm Teller syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Epileptic encephalopathy with global cerebral demyelination Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive amelia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bone dysplasia lethal Holmgren type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniosynostosis fibular aplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cortical blindness, intellectual disability, polydactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
TMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Coenzyme A synthase protein associated neurodegeneration Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 18 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive spastic paraplegia type 25 Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lambert syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Epilepsy telangiectasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
German syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Abetalipoproteinaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dermatoleukodystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Bonnemann Meinecke Reich syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Marfanoid habitus with autosomal recessive intellectual disability syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Thyrocerebrorenal syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Eyebrow duplication syndactyly syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Stimmler syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
DDOST-CDG - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital disorder of glycosylation type 1n Is a True Autosomal recessive hereditary disorder Inferred relationship Some
ALG11-CDG - asparagine-linked glycosylation 11 congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early-onset Lafora body disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Leukoencephalopathy, dystonia, motor neuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Jeune thoracic dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pseudoprogeria syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
MAN1B1-CDG - mannosidase alpha class 1B member 1 deficiency congenital disorder of glycosylation Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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